Variant report

Variant	rs147535516
Chromosome Location	chr6:44217150-44217151
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44044085..44046991-chr6:44216069..44218144,2	K562	blood:
2	chr6:44138460..44140248-chr6:44216411..44219191,2	MCF-7	breast:
3	chr6:43593505..43599096-chr6:44213646..44217999,9	K562	blood:
4	chr6:44040622..44046991-chr6:44213898..44218144,6	K562	blood:
5	chr6:44217074..44219201-chr6:44303234..44306266,3	K562	blood:
6	chr6:43740852..43742547-chr6:44215186..44217318,2	K562	blood:
7	chr6:43596586..43599214-chr6:44212975..44217729,5	K562	blood:
8	chr6:44147611..44150566-chr6:44216082..44217959,2	K562	blood:
9	chr6:44213056..44218708-chr6:44277561..44284910,14	K562	blood:
10	chr6:44122736..44127198-chr6:44213713..44218106,8	K562	blood:
11	chr6:44215194..44217832-chr6:44265456..44268236,2	K562	blood:
12	chr6:44119338..44121268-chr6:44217080..44219082,2	K562	blood:
13	chr6:44093312..44099146-chr6:44212809..44220233,13	MCF-7	breast:
14	chr6:44133200..44145960-chr6:44211718..44220192,28	K562	blood:
15	chr6:44216338..44218124-chr6:44278260..44280536,2	MCF-7	breast:
16	chr6:44216828..44218567-chr6:86441668..86443185,2	K562	blood:
17	chr6:44102300..44103810-chr6:44217085..44219374,2	K562	blood:
18	chr6:44216828..44218567-chr6:86441664..86443185,4	K562	blood:
19	chr6:44213880..44217687-chr6:44354177..44357164,5	K562	blood:
20	chr6:44216083..44217678-chr6:44271012..44273836,2	MCF-7	breast:
21	chr6:43637159..43639334-chr6:44216185..44218215,2	K562	blood:
22	chr6:44213575..44218708-chr6:44278177..44283526,11	K562	blood:

No data

Variant related genes	Relation type
ENSG00000237686	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000180992	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000172432	Chromatin interaction
ENSG00000096401	Chromatin interaction
ENSG00000231881	Chromatin interaction
ENSG00000124608	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000137225	Chromatin interaction
ENSG00000146221	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv885852	chr6:44185901-44222718	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
5	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
7	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
10	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
12	nsv969396	chr6:44216621-44221180	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44214200-44217800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr6:44214800-44220200	Transcr. at gene 5' and 3'	Pancreatic Islets	Pancreatic Islet
3	chr6:44215000-44220000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
4	chr6:44215400-44217800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:44215400-44218400	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr6:44215400-44218600	Transcr. at gene 5' and 3'	A549	lung
7	chr6:44215600-44217200	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
8	chr6:44215600-44217200	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
9	chr6:44215600-44217400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
10	chr6:44215600-44217400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
11	chr6:44215600-44217600	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
12	chr6:44215600-44217600	Transcr. at gene 5' and 3'	NHEK	skin
13	chr6:44215600-44217800	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
14	chr6:44215600-44218400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
15	chr6:44215800-44217200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:44215800-44217200	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
17	chr6:44215800-44217200	Transcr. at gene 5' and 3'	HSMM	muscle
18	chr6:44215800-44217400	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
19	chr6:44215800-44217400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:44215800-44217600	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
21	chr6:44215800-44217600	Transcr. at gene 5' and 3'	K562	blood
22	chr6:44215800-44217800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:44215800-44217800	Transcr. at gene 5' and 3'	HMEC	breast
24	chr6:44215800-44218400	Transcr. at gene 5' and 3'	HUVEC	blood vessel
25	chr6:44215800-44218800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:44215800-44218800	Transcr. at gene 5' and 3'	Hela-S3	cervix
27	chr6:44215800-44221400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
28	chr6:44216000-44217200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells	blood
29	chr6:44216000-44217400	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
30	chr6:44216000-44217600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:44216000-44217600	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
32	chr6:44216000-44217600	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
33	chr6:44216000-44217600	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
34	chr6:44216000-44217600	Transcr. at gene 5' and 3'	NH-A	brain
35	chr6:44216200-44217200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:44216200-44217400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:44216200-44217600	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
38	chr6:44216200-44223800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
39	chr6:44216400-44217200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr6:44216400-44217200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:44216400-44217200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:44216400-44217200	Genic enhancers	Primary T cells fromperipheralblood	blood
43	chr6:44216400-44217200	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:44216400-44217200	Enhancers	Fetal Heart	heart
45	chr6:44216400-44217200	Genic enhancers	Fetal Muscle Leg	muscle
46	chr6:44216400-44217200	Transcr. at gene 5' and 3'	Left Ventricle	heart
47	chr6:44216400-44217400	Genic enhancers	Fetal Lung	lung
48	chr6:44216400-44217400	Transcr. at gene 5' and 3'	HepG2	liver
49	chr6:44216400-44217400	Transcr. at gene 5' and 3'	NHLF	lung
50	chr6:44216400-44217400	Transcr. at gene 5' and 3'	Osteobl	bone

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